Canonical Allele Identifier: CA5148823

Gene: XPA

Linked Data

• ClinVar Variation Id: 264684
• ClinVar RCV Id: RCV000246304 ; RCV001063951 ; RCV001255518
• dbSNP Id: rs750218942
• ExAC: 9:100449544 C / G
• gnomAD v2: 9-100449544-C-G
• gnomAD v3: 9-97687262-C-G
• gnomAD v4: 9-97687262-C-G
• MyVariant Identifiers: chr9:g.100449544C>G (hg19) ; chr9:g.97687262C>G (hg38)
• PubMed: PMID:16905156 ; PMID:20301571

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97687262C>G , CM000671.2:g.97687262C>G	GRCh38
NC_000009.11:g.100449544C>G , CM000671.1:g.100449544C>G	GRCh37
NC_000009.10:g.99489365C>G	NCBI36
NG_011642.1:g.15148G>C , LRG_471:g.15148G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.390-1G>C MANE Select	ENSP00000364270.5:n.390-1G>C
ENST00000375128.4:c.390-1G>C	ENSP00000364270.4:n.390-1G>C
ENST00000462523.5:c.390-1G>C	ENSP00000433006.1:n.390-1G>C
ENST00000496104.1:n.184-1G>C
NM_000380.3:c.390-1G>C , LRG_471t1:c.390-1G>C	NP_000371.1:n.390-1G>C
NR_027302.1:n.507-1G>C
XM_006717278.1:c.390-1G>C	XP_006717341.1:n.390-1G>C
XM_011518988.1:c.390-1G>C	XP_011517290.1:n.390-1G>C
XR_929839.1:n.501-1G>C
NM_001354975.1:c.264-1G>C	NP_001341904.1:n.264-1G>C
NR_149091.1:n.401-2222G>C
NR_149092.1:n.401-1G>C
NR_149093.1:n.507-1G>C
NR_149094.1:n.401-1G>C
NM_000380.4:c.390-1G>C MANE Select	NP_000371.1:n.390-1G>C
NM_001354975.2:c.264-1G>C	NP_001341904.1:n.264-1G>C
NR_027302.2:n.438-1G>C
NR_149091.2:n.332-2222G>C
NR_149092.2:n.332-1G>C
NR_149093.2:n.438-1G>C
NR_149094.2:n.332-1G>C